{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9384275",
  "communityStandardTitle": [
    "NM_014727.3(KMT2B):c.1699A>G (p.Ile567Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3983904[alleleid]",
        "alleleId": 3983904,
        "preferredName": "NM_014727.3(KMT2B):c.1699A>G (p.Ile567Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3865078",
        "RCV": [
          "RCV005368556"
        ],
        "variationId": 3865078
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-36211948-A-G",
        "id": "19-36211948-A-G",
        "variant": "19:36211948 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.36211948A>G?assembly=hg19",
        "id": "chr19:g.36211948A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.35721046A>G?assembly=hg38",
        "id": "chr19:g.35721046A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/367816667",
        "rs": 367816667
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-36211948-A-G?dataset=gnomad_r2_1",
        "id": "19-36211948-A-G",
        "variant": "19:36211948 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-35721046-A-G?dataset=gnomad_r4",
        "id": "19-35721046-A-G",
        "variant": "19:35721046 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 35721046,
          "referenceAllele": "A",
          "start": 35721045
        }
      ],
      "hgvs": [
        "NC_000019.10:g.35721046A>G",
        "CM000681.2:g.35721046A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 36211948,
          "referenceAllele": "A",
          "start": 36211947
        }
      ],
      "hgvs": [
        "NC_000019.9:g.36211948A>G",
        "CM000681.1:g.36211948A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 40903788,
          "referenceAllele": "A",
          "start": 40903787
        }
      ],
      "hgvs": [
        "NC_000019.8:g.40903788A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8028,
          "referenceAllele": "A",
          "start": 8027
        }
      ],
      "hgvs": [
        "NG_052906.1:g.8028A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617248"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1679,
          "referenceAllele": "A",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "ENST00000673918.2:c.1633A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501283.1:p.Ile545Val",
        "hgvsWellDefined": "ENSP00000501283.1:p.Ile545Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1642,
          "referenceAllele": "A",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "ENST00000687718.1:c.*1200A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510535.1:n.*1200A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1197,
          "referenceAllele": "A",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "ENST00000689139.1:c.1197A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1197,
          "referenceAllele": "A",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "ENST00000691855.1:c.1197A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833416"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1715,
          "referenceAllele": "A",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "ENST00000692961.1:c.1699A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509289.1:p.Ile567Val",
        "hgvsWellDefined": "ENSP00000509289.1:p.Ile567Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1715,
          "referenceAllele": "A",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "ENST00000420124.4:c.1699A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398837.2:p.Ile567Val",
        "hgvsWellDefined": "ENSP00000398837.2:p.Ile567Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754821",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000420124.4:c.1699A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014727.3:c.1699A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398837.2:p.Ile567Val"
          },
          "RefSeq": {
            "hgvs": "NP_055542.1:p.Ile567Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1679,
          "referenceAllele": "A",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "ENST00000673918.1:c.1633A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501283.1:p.Ile545Val",
        "hgvsWellDefined": "ENSP00000501283.1:p.Ile545Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773973"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1699,
          "referenceAllele": "A",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "ENST00000420124.2:c.1699A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398837.1:p.Ile567Val",
        "hgvsWellDefined": "ENSP00000398837.1:p.Ile567Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286181"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 39,
          "endIntronDirection": "+",
          "endIntronOffset": 106,
          "referenceAllele": "A",
          "start": 39,
          "startIntronDirection": "+",
          "startIntronOffset": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "ENST00000606995.2:n.39+106A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS399816"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057652828",
      "coordinates": [
        {
          "allele": "G",
          "end": 1699,
          "referenceAllele": "A",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "NM_014727.2:c.1699A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055542.1:p.Ile567Val",
        "hgvsWellDefined": "NP_055542.1:p.Ile567Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1657,
          "referenceAllele": "A",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "XM_011527561.1:c.1633A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525863.1:p.Ile545Val",
        "hgvsWellDefined": "XP_011525863.1:p.Ile545Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094654"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1723,
          "referenceAllele": "A",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "XM_011527562.1:c.1699A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525864.1:p.Ile567Val",
        "hgvsWellDefined": "XP_011525864.1:p.Ile567Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094655"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1723,
          "referenceAllele": "A",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "XM_011527563.1:c.1699A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525865.1:p.Ile567Val",
        "hgvsWellDefined": "XP_011525865.1:p.Ile567Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094656"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1723,
          "referenceAllele": "A",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "XR_935878.1:n.1723A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1570,
          "referenceAllele": "A",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "XM_011527561.2:c.1135A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525863.2:p.Ile379Val",
        "hgvsWellDefined": "XP_011525863.2:p.Ile379Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548739"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1900,
          "referenceAllele": "A",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "XM_011527562.2:c.1699A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525864.1:p.Ile567Val",
        "hgvsWellDefined": "XP_011525864.1:p.Ile567Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1900,
          "referenceAllele": "A",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "XM_017027544.1:c.1699A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883033.1:p.Ile567Val",
        "hgvsWellDefined": "XP_016883033.1:p.Ile567Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1613,
          "referenceAllele": "A",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "XM_017027545.1:c.1135A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883034.1:p.Ile379Val",
        "hgvsWellDefined": "XP_016883034.1:p.Ile379Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1900,
          "referenceAllele": "A",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "XR_935878.2:n.1900A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057652828",
      "coordinates": [
        {
          "allele": "G",
          "end": 1715,
          "referenceAllele": "A",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "NM_014727.3:c.1699A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055542.1:p.Ile567Val",
        "hgvsWellDefined": "NP_055542.1:p.Ile567Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697331",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000420124.4:c.1699A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014727.3:c.1699A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398837.2:p.Ile567Val"
          },
          "RefSeq": {
            "hgvs": "NP_055542.1:p.Ile567Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}